Including diverse and admixed populations in genetic epidemiology research

被引：30

作者：

Caliebe, Amke ^{[1
,2
]}

Tekola-Ayele, Fasil ^{[3
]}

Darst, Burcu F. ^{[4
,5
]}

Wang, Xuexia ^{[6
]}

Song, Yeunjoo E. ^{[7
]}

Gui, Jiang ^{[8
]}

Sebro, Ronnie A. ^{[9
]}

Balding, David J. ^{[10
,11
]}

Saad, Mohamad ^{[12
,13
]}

Dube, Marie-Pierre ^{[14
,15
,16
]}

机构：

[1] Univ Kiel, Inst Med Informat & Stat, Kiel, Germany

[2] Univ Hosp Schleswig Holstein, Kiel, Germany

[3] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Epidemiol Branch, Div Populat Hlth Res, Div Intramural Res,NIH, Bethesda, MD USA

[4] Univ Southern Calif, Ctr Genet Epidemiol, Los Angeles, CA 90007 USA

[5] Fred Hutchinson Canc Res Ctr, Publ Hlth Sci Div, 1124 Columbia St, Seattle, WA 98104 USA

[6] Univ North Texas, Dept Math, Denton, TX 76203 USA

[7] Case Western Reserve Univ, Dept Populat & Quantitat Hlth Sci, Cleveland, OH 44106 USA

[8] Dartmouth Coll, Dept Biomed Data Sci, Geisel Sch Med, One Med Ctr Dr, Lebanon, NH 03756 USA

[9] Mayo Clin, Dept Radiol, Jacksonville, FL 32224 USA

[10] Univ Melbourne, Melbourne Integrat Genom, Sch BioSci, Melbourne, Vic, Australia

[11] Univ Melbourne, Melbourne Integrat Genom, Sch Math & Stat, Melbourne, Vic, Australia

[12] Hamad Bin Khalifa Univ, Qatar Comp Res Inst, Doha, Qatar

[13] Lebanese Univ, Fac Med Sci, Neurosci Res Ctr, Beirut, Lebanon

[14] Univ Montreal, Dept Med, Montreal, PQ, Canada

[15] Univ Montreal, Social & Prevent Med, Montreal, PQ, Canada

[16] Montreal Heart Inst, Beaulieu Saucier Pharmacogenomcis Ctr, Montreal, PQ, Canada

来源：

GENETIC EPIDEMIOLOGY | 2022年 / 46卷 / 07期

基金：

美国国家卫生研究院;

关键词：

admixture; diversity; genetic association; genome-wide association study; inclusion; GENOME-WIDE ASSOCIATION; POLYGENIC RISK SCORES; MIXED-MODEL ANALYSIS; LOCAL-ANCESTRY; LACTASE PERSISTENCE; NEANDERTHAL ANCESTRY; RECOMBINATION RATES; ADMIXTURE; DISEASE; METAANALYSIS;

D O I：

10.1002/gepi.22492

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The inclusion of ancestrally diverse participants in genetic studies can lead to new discoveries and is important to ensure equitable health care benefit from research advances. Here, members of the Ethical, Legal, Social, Implications (ELSI) committee of the International Genetic Epidemiology Society (IGES) offer perspectives on methods and analysis tools for the conduct of inclusive genetic epidemiology research, with a focus on admixed and ancestrally diverse populations in support of reproducible research practices. We emphasize the importance of distinguishing socially defined population categorizations from genetic ancestry in the design, analysis, reporting, and interpretation of genetic epidemiology research findings. Finally, we discuss the current state of genomic resources used in genetic association studies, functional interpretation, and clinical and public health translation of genomic findings with respect to diverse populations.

引用

页码：347 / 371

页数：25

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